Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant

por Garg, Abhimanyu, Keng, Wee-Teik, Chen, Zhenkang, Sathe, Adwait Amod, Xing, Chao, Kailasam, Pavithira Devi, Shao, Yanqiu, Lesner, Nicholas P., Llamas, Claire B., Agarwal, Anil K., Mishra, Prashant
Publicado 2022

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

por Leong, Huey Yin, Abdul Azize, Nor Azimah, Chew, Hui Bein, Keng, Wee Teik, Thong, Meow Keong, Mohd Khalid, Mohd Khairul Nizam, Hung, Liang Choo, Mohamed Zainudin, Norzila, Ramlee, Azura, Md Haniffa, Muzhirah Aisha, Yakob, Yusnita, Ngu, Lock Hock
Publicado 2019

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

por Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Keng, Wee Teik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.
Publicado 2016

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

por Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B., Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A., Grimes, Graeme R., von Kriegsheim, Alex, Moore, David, McKie, Lisa, Rahmat, Jamalia, Mio, Catia, Blyth, Moira, Keng, Wee Teik, Islam, Lily, McEntargart, Meriel, Mannens, Marcel M., Heyningen, Veronica Van, Rainger, Joe, Brooks, Brian P., FitzPatrick, David R.
Publicado 2022

Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

por Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, de Carvalho, Daniel Rocha, de Rizzo, Isabela Maria Pinto Oliveira, de Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, van Scherpenzeel, Monique, Janssen, Mirian, de Boer, Lonneke, van den Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
Publicado 2022

FAT1 mutations cause a glomerulotubular nephropathy

por Gee, Heon Yung, Sadowski, Carolin E., Aggarwal, Pardeep K., Porath, Jonathan D., Yakulov, Toma A., Schueler, Markus, Lovric, Svjetlana, Ashraf, Shazia, Braun, Daniela A., Halbritter, Jan, Fang, Humphrey, Airik, Rannar, Vega-Warner, Virginia, Cho, Kyeong Jee, Chan, Timothy A., Morris, Luc G. T., ffrench-Constant, Charles, Allen, Nicholas, McNeill, Helen, Büscher, Rainer, Kyrieleis, Henriette, Wallot, Michael, Gaspert, Ariana, Kistler, Thomas, Milford, David V., Saleem, Moin A., Keng, Wee Teik, Alexander, Stephen I., Valentini, Rudolph P., Licht, Christoph, Teh, Jun C., Bogdanovic, Radovan, Koziell, Ania, Bierzynska, Agnieszka, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Holzman, Lawrence B., Sibinga, Nicholas E. S., Walz, Gerd, Tufro, Alda, Hildebrandt, Friedhelm
Publicado 2016